1. Genes and Genomic Entities
  2. TSHB

TSHB

thyroid stimulating hormone beta
OMIM: 188540, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red TSHB in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.7
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Green TSHB in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100
    Green TSHB in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
    Green TSHB in Congenital hypothyroidism


    Level 2: Endocrinology
    Version 3.4
    Latest signed off version: v3.3 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital hypothyroidism
    • Hypothryoidism, congenital, nongoitrous 4, 275100
    • severe isolated central hypothyroidism